遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_007294.4(BRCA1):c.4253T>G (p.Leu1418Ter)	BRCA1	Pathogenic	17	41234525	41234525	A	C	reviewed by expert panel	ClinGen:CA002733
single nucleotide variant	NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)	BRCA1	Pathogenic	17	41234520	41234520	G	A	reviewed by expert panel	ClinGen:CA002737
Duplication	NM_007294.4(BRCA1):c.4266dup (p.Ser1423fs)	BRCA1	Pathogenic	17	41234511	41234512	T	TC	reviewed by expert panel	ClinGen:CA327926
Deletion	NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)	BRCA1	Pathogenic	17	41234495	41234496	GCT	G	reviewed by expert panel	ClinGen:CA002747
single nucleotide variant	NM_007294.4(BRCA1):c.4287C>A (p.Tyr1429Ter)	BRCA1	Pathogenic	17	41234491	41234491	G	T	reviewed by expert panel	ClinGen:CA002749
Duplication	NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)	BRCA1	Pathogenic	17	41234477	41234478	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4419&base_change=ins A,ClinGen:CA002758
Deletion	NM_007294.4(BRCA1):c.431del (p.Asn144fs)	BRCA1	Pathogenic	17	41256149	41256149	AT	A	reviewed by expert panel	ClinGen:CA002766
Duplication	NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs)	BRCA1	Pathogenic	17	41234456	41234457	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4440&base_change=ins G,ClinGen:CA002767
Deletion	NM_007294.4(BRCA1):c.4331_4332del (p.Asn1444fs)	BRCA1	Pathogenic	17	41234446	41234447	GAT	G	reviewed by expert panel	ClinGen:CA002772
Deletion	NM_007294.4(BRCA1):c.4331_4338del (p.Asn1444fs)	BRCA1	Pathogenic	17	41234440	41234447	GTTCTGGAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4450&base_change=del ATCCAGAA,ClinGen:CA002773